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TGGCTCTCCTCACTTCTTCAGAAAA[C/T]GCTGCAACTGTTCCTGTAGGGAAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300052 MIM: 300314 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DRP2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DRP2 - dystrophin related protein 2 | ||||||
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There are no transcripts associated with this gene. |
TAF7L - TATA-box binding protein associated factor 7 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168474.1 | 1231 | Missense Mutation | CAT,CGT | H,R 372 | NP_001161946.1 | |
NM_024885.3 | 1231 | Missense Mutation | CAT,CGT | H,R 458 | NP_079161.3 | |
XM_005262152.1 | 1231 | Missense Mutation | CAT,CGT | H,R 373 | XP_005262209.1 | |
XM_006724664.1 | 1231 | Missense Mutation | CAT,CGT | H,R 459 | XP_006724727.1 |